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Výskyt laktózové intolerance v české populaci
CHÁNOVÁ, Jiřina
The aim of this diploma thesis is to summarize the current knowledge on the issue of very common gastrointestinal disorder - lactose intolerance. In the experimental part, the occurrence of genotypic frequencies in the MCM6 gene was screened. Specifically, the occurrence of two single nucleotide polymorphisms C/T-13910 and G/A-22018, which are associated with primary hypolactasia. A further aim of the work was to evaluate the possible association between lactose intolerance and irritable bowel syndrome.
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Population structure, migration and dynamics in Africa and Arabia
Čížková, Martina ; Černý, Viktor (advisor) ; Frynta, Daniel (referee) ; Zrzavý, Jan (referee)
In addition to the interaction of evolutionary forces, the population history of the African Sahel and Arabia has been influenced by the spread of Neolithic cultural innovations. The reflection of these processes today is a very complex structured diversity of the current populations, which is presented here through the analysis of several genetic markers. The aim is to provide a comprehensive view of the history of demographic processes in the Sahel and Arabia, by combining genetic, linguistic, subsistence and geographical data obtained from local populations. A study of a large dataset of mtDNA sequences showed that Arabia was a major crossroads in gene flow, and although it was colonized by anatomically modern humans from East Africa, today's differentiation from Africa is greater than the differentiation between local populations in these regions. Even the Sahel was an important biocorridor in the past. Today, we encounter populations of various subsistence strategies (nomadic pastoralists and settled farmers), between which gene flow has been severely restricted. A comparison of uniparently inherited loci in both groups points to different migratory activity in the eastern and western parts of the Sahel. Analyzes of Alu elements, which indicated the inclination of West African herders (Fulbs)...
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Laktózová intolerance: výskyt ve světové populaci a možnosti její diagnostiky
CHÁNOVÁ, Jiřina
The aim of the theoretical part of this bachelors thesis was to give the summary of current knowledge of the topic 'lactose intolerance'. There are being characterized the cause of lactose intolerance, the global prevalence, possibilities of its diagnosis and of its treatment. The practical part deals with the methodology that I used for the detection of C/T-13910 and G/A-22018 polymorphism. In the genetic laboratory were tested 34 individuals for the lactose intolerance with method RFLP-PCR.
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Lactase Persistence in the Tuareg Pastoralists
Šmídková, Lucie ; Černý, Viktor (advisor) ; Brůžek, Jaroslav (referee)
Lactase persistence (LP) is a genetically determined trate caused by the expression of lactase in adulthood. Lactase is the intestinal enzyme responsible for digestion of milk sugar, lactose. Its production in the small intestine decreases during the childhood, this physiological condition is called lactose intolerance. However, in some individuals production of this enzyme is not stopped. The persistence of lactase activity is a recent phenomenon, which arose independently in several parts of the world over the past roughly 10,000 years, in connection with the emergence of agriculture, specifically milk production and is (likely) still under strong selection pressure. LP was first observed in Europe, where it is associated with a mutation -13 910*T. Frequency of this mutation correlates with latitude. In Africa, the presence of LP is conversely associated with herding and falls under the hypothesis of genetic and cultural co-evolution associated with cattle and the use of secondary food sources. Pastoral populations living in different areas of Africa have different LP mutations that are linked to their origin. Although many investigation on LP have already been carried out, neither analysed the Tuareg populations. This study is focused on the analysis LP mutations in 93 samples of Tuaregs from...
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The interaction of lactase persistence and skin depigmentation in connection with the calcium assimilation hypothesis
Grendelová, Gréta ; Černý, Viktor (advisor) ; Brůžek, Jaroslav (referee)
The most recent genetic studies have proven that skin colour of our European ancestors was originally very dark. Skin depigmentation has begun after "out of Africa" time as a result of low levels of the ultraviolet radiation in changed regions at the higher latitudes. Lightly pigmented skin allows sunlight to penetrate human skin more deeply and vitamin D, which is essential for optimal functions of human body, is synthesised by biochemical interaction of ultraviolet radiation and epidermis. A deficit of vitamin D and calcium may be associated with the rickets in children and osteomalacia in adults. Following the correlation of rising depigmentation at the higher latitudes we may notice an increasing number of people with specific metabolic ability known as lactase persistence. Lactase persistence allows the digestion of milk sugar, lactose, in fresh milk in adulthood. It has likely evolved as a substitute in order to compensate for lower amounts of vitamin D in human body. The origin and spread of lactase persistence began around 7,000 years ago after the start of milk production. The oldest evidence of milk production was found in the Middle East. Lately, it has also been supported by the recent genetic analyses. Depigmentation and lactase persistence both began as an adaptation due to changed...
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